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Biomedical subjects

F R Dietz

Publications and source records attributed to F R Dietz.

At least 19 recordsLinked to original sources
PubMed2000

Localization of dominantly inherited isolated triphalangeal thumb to chromosomal region 7q36.

Triphalangeal thumb is an autosomal dominantly inherited form of abnormal preaxial skeletal development. In most families, however, the triphalangeal thumb phenotype coexists with a spectrum of limb deformities, including polydactyly and syndactyly. We describe two Iowa kindreds with triphalangeal thumb. In one family, with nine affected members, triphalangeal thumb was the only manifestation of limb deformity. We performed linkage analysis on both pedigrees, demonstrating a maximum LOD score of 6.23 with marker D7S559 on chromosome 7q36. This corresponds to a previous study of a candidate region of 450 kb in which data from several families with preaxial polydactyly were employed. Further analysis of the unique family with isolated triphalangeal thumb in the current study may demonstrate allelic variability of the gene involved in these disorders.

Chromosome Mapping↗
PubMed1999

Stulberg classification system for evaluation of Legg-Calvé-Perthes disease: intra-rater and inter-rater reliability.

BACKGROUND: Researchers and clinicians commonly use the classification system of Stulberg et al. as a basis for treatment decisions during the active phase of Legg-Calvé-Perthes disease because of its putative utility as a predictor of long-term outcome. It is generally assumed that this system has an acceptable degree of reliability. This assumption, however, is not convincingly supported by the literature. METHODS: The purpose of the present study was to assess the inter-rater and intra-rater reliability of the classification system of Stulberg et al. with use of a pre-test, post-test design. During the pre-test phase, nine raters independently used the system to evaluate the radiographs of skeletally mature patients who had been managed for Legg-Calvé-Perthes disease. The intervention between the pre-test and post-test phases consisted of a consensus-building session during which all raters jointly arrived at standardized definitions of the various joint structures that are assessed with use of the classification system. The effect of these definitions on reliability then was assessed by reevaluating the radiographs during the post-test phase. RESULTS: The pre-test intra-rater reliability coefficients ranged from 0.709 to 0.915, and the post-test coefficients ranged from 0.568 to 0.874. The pre-test inter-rater reliability coefficients ranged from 0.603 to 0.732, and the post-test coefficients ranged from 0.648 to 0.744. Contributing to the variance was a lack of agreement concerning the assessment of joint structures and the way in which the raters translated these evaluations into a classification according to the system of Stulberg et al. CONCLUSIONS: Although intra-rater reliability was marginally acceptable, the degree of variability between the classifications assigned by different raters even after the intervention - calls into question the reliability of the system of Stulberg et al.; consequently, the validity of any treatment decisions, outcome evaluations, or epidemiological studies based on this system is also in question.

Acetabulum↗
PubMed1999

Screening for developmental dysplasia of the hip.

Screening programs relying primarily on physical examination techniques for the early detection and treatment of congenital hip abnormalities have not been as consistently successful as expected. Since the 1980s, increased attention has been given to ultrasound imaging of the hip in young infants (less than five months of age) as a possible tool for improving patient outcomes. Although ultrasound examination may not provide advantages over careful repeated physician examination for universal screening, a growing body of evidence indicates that ultrasound surveillance of mild abnormalities can reduce the need for bracing without worsening outcomes. Radiographic documentation of hip normality after the femoral nucleus of ossification has appeared (at three to five month of age) is still appropriate to rule out hip dysplasia.

Hip Dislocation, Congenital↗
PubMed1996

Peripheral nerve extract effects on mesenchymal cells.

Several common congenital limb disorders are characterized by normal tissue differentiation but abnormal somatic growth. These include: idiopathic clubfoot, idiopathic leg length discrepancy, hemi-atrophy and hemi-hypertrophy. Both clinical and research studies have suggested that peripheral nerves may be important in regulating somatic growth of limb tissues. To investigate the hypothesis that peripheral nerves convey trophic substances to mesenchymal tissues that are involved in the regulation of growth, we developed an in vitro assay to assess the effect of fractions of peripheral nerve on myoblast and chondroblast growth and differentiation in a mammalian (rat) system. Whole rat sciatic nerve extract was fractionated by ammonium sulfate precipitation and by affinity chromatography. Concavalin A chromatography resolved whole nerve extract into a glycoprotein and a non-glycoprotein fraction. Serial ammonium sulfate precipitation yielded three pellet fractions designated as 35%, 70%, and 100% pellets; corresponding to ammonium sulfate concentrations of 0 to 35%, 35 to 70%, and 70 to 100% saturation, respectively. Dialyzed solutions of these pellets as well as the fractions from Concavalin A chromatography were assayed for biological activity in micromass cultures of rat limb bud mesenchyme, which allowed assessment of both myoblast and chondroblast stimulation. Stimulation of protein synthesis and myoblast proliferation (as measured by MF20 staining) occurred with both 70% and 100% ammonium sulfate fractions. Stimulation of chondroblasts (as measured by the number of alcian blue staining nodules) occurred with the 35% and 100% fractions. The glycoprotein fraction from the affinity chromatography stimulated protein synthesis and myoblast proliferation and inhibited chondroblast development. Stimulation of chondroblasts was seen with the non-glycoprotein fraction. No effect on protein synthesis, myoblast proliferation or chondroblast proliferation was found in cultures treated with rat transferrin (transferrin has been reported to stimulate myoblasts in avian culture systems).

Ammonium Sulfate↗
PubMed1995

Treatment of idiopathic clubfoot. A thirty-year follow-up note.

We evaluated forty-five patients who had seventy-one congenital clubfeet. The average age was thirty-four years (range, twenty-five to forty-two years). Twenty-nine of these patients had been evaluated and reported on in 1980. We performed pedobarographic and electrogoniometric analyses in addition to the clinical and radiographic studies performed previously. With the use of pain and functional limitation as the outcome criteria, thirty-five (78 per cent) of the forty-five patients had an excellent or good outcome compared with eighty-two (85 per cent) of ninety-seven individuals who did not have congenital deformity of the foot. The patient's occupation, passive dorsiflexion as measured with a hand-held goniometer, the antero-posterior calcaneus-fifth metatarsal angle, the total foot pressure time integral, and the number of rapid single-limb toe-ups that could be performed were the only variables that differed significantly between the feet that had an excellent or good result and those that had a poor result (p < 0.05). A comparison of the feet that had an excellent or good outcome with those that had a poor outcome with regard to body-mass index, peak pressure under the heel, and force time integral under the metatarsal heads revealed a p value that was between 0.05 and 0.08 for each variable. The technique of treatment led to good long-term results in our patients who had clubfoot. The data suggest that a sedentary occupation and avoidance of excessive weight gain may improve the over-all long-term result. Excessive weakening of the triceps surae may predispose patients to a poor result; therefore, it is prudent to avoid overlengthening of this muscle. The outcome could not be predicted from the radiographic result.

Adult↗
PubMed1994

Intoeing--fact, fiction and opinion.

Intoeing in children is a common cause of parental concern. A normal neurologic examination and normal height and weight for age help the physician exclude most associated skeletal dysplasias, and neuromuscular or metabolic diseases. Three causes of intoeing affect otherwise normal newborns and infants. Metatarsus adductus is the diagnosis if a "C" shaped curve, rather than a straight border, is present on the lateral aspect of the foot. About 90 percent of cases resolve by one year of age. Internal tibial torsion, although a normal finding in the newborn, is usually a matter of concern at walking age. When the child is walking or standing, the patella can be seen to point forward, with the foot pointing inward. Children with excessive femoral anteversion, the most common cause of intoeing, walk or stand with both patella and feet pointing inward. Nonsurgical treatment, with the exception of casting in children with metatarsus adductus, has not been shown to be effective. Osteotomy, the only effective treatment for rotational abnormalities of the femur and tibia, has high complication rates and should not be considered until the patient is eight to 10 years of age. Since disability from intoeing is extremely rare and most cases resolve spontaneously, observation and parental education are important from the time of diagnosis.

Foot Deformities, Congenital↗
PubMed1994

Traction reduction of acute and acute-on-chronic slipped capital femoral epiphysis.

Gentle reduction of acute or the acute portion of acute-on-chronic severe slipped capital femoral epiphyses (SCFE) is generally recommended. Reports of the use of longitudinal traction with medial rotation traction, although few, are uniform in describing a high rate of success with rare complications. Of 30 acute or acute-on-chronic SCFEs examined at the author's institution between 1970 and 1990, 13 underwent attempted traction reduction with longitudinal traction and medial rotation. Only five of these 13 hips had discernible reduction. One of these five hips developed aseptic necrosis; however, this hip was clearly distracted from the acetabulum by excessive longitudinal traction that may have contributed to the development of osteonecrosis. One of the seven hips that failed traction reduction developed aseptic necrosis, and one of the 17 acute SCFEs pinned in situ developed aseptic necrosis. All three hips developing necrosis were in a group of 14 hips with moderate to severe SCFEs and complete inability to bear weight with severe pain.

Acute Disease↗
PubMed1993

A primer of osteotomy of the weight bearing long bones in children.

A. Why Perform An Osteotomy In Childhood or Adolescence? 1. Progressive deformity for which osteotomy is curative. 2. Cosmesis. 3. To prevent the development of late osteoarthritis (unproven). 4. Progressive ligamentous laxity (rare). 5. Functionally limiting deformities (rare). 6. Development of adaptive joint deformity (rare). B. When To Perform An Osteotomy 1. Immediate correction for progressive deformities or functionally limiting deformities that can not be expected to improve by the natural history of the deformity. 2. Immediate correction if the problems listed under "A" are present such as the development of adaptive joint deformity or progressive ligamentous laxity. 3. If no indication for osteotomy exists except cosmesis, consider delaying correction to avoid the need for repeated osteotomies in disorders for which recurrence is common. C. How To Do The Osteotomies 1. Perform the osteotomy at the level of the deformity when possible. 2. Choose the simplest, safest method that will accomplish specific goals. 3. Complex restoration of perfect mechanical axis and joint alignment may not be necessary. The lesser risks of simpler techniques should be considered. 4. The specific technique chosen will depend on the experience and abilities of the treating physician.

Adolescent↗
PubMed1993

A single-gene explanation for the probability of having idiopathic talipes equinovarus.

It has been hypothesized that the pathogenesis of idiopathic talipes equinovarus (ITEV, or clubfoot) is explained by genetic regulation of development and growth. The objective of the present study was to determine whether a single Mendelian gene explains the probability of having ITEV in a sample of 143 Caucasian pedigrees from Iowa. These pedigrees were ascertained through probands with ITEV. Complex segregation analyses were undertaken using a regressive logistic model. The results of these analyses strongly rejected the hypotheses that the probability of having ITEV in these pedigrees was explained by a non-Mendelian pattern of transmission with residual sibling correlation, a nontransmitted (environmental) factor with residual sibling correlation, or residual sibling correlation alone. These results were consistent with the hypothesis that the probability of having ITEV was explained by the Mendelian segregation of a single gene with two alleles plus the effects of some unmeasured factor(s) shared among siblings. The segregation of alleles at this single Mendelian gene indicated that the disease allele A was incompletely dominant to the nondisease allele B. The disease allele A, associated with ITEV affection, was estimated to occur in the population of inference with a frequency of .007. After adjusting for sex-specific population incidences of ITEV, the conditional probability (penetrance) of ITEV affection given the AA, AB, and BB genotypes was computed to be 1.0, .039, and .0006, respectively. Individual pedigrees in this sample that most strongly supported the single Mendelian gene hypothesis were identified. These pedigrees are candidates for genetic linkage analyses or DNA association studies.

Clubfoot↗
PubMed1992

The weight-bearing abduction brace for the treatment of Legg-Perthes disease.

We reviewed the cases of thirty-one patients (thirty-four hips) who had had severe Legg-Perthes disease (Catterall group III, five hips and group IV, twenty-nine hips) and had been treated with a weight-bearing abduction orthosis, to determine the effectiveness of the brace. The mean age of the patients when they were first seen was six years (range, three to twelve years). The mean duration of follow-up was seven years (range, two to thirteen years). At the most recent follow-up, all hips were rated with the method of Mose and the classification of Stulberg et al. According to the criteria of Mose, no hip had a good result, twelve (35 per cent) had a fair result, and twenty-two (65 per cent) had a poor result. On the basis of the classification of Stulberg et al., there were fourteen (41 per cent) class-II results, eighteen (53 per cent) class-III and IV results, and two (6 per cent) class-V results. Although containment is the most widely accepted principle of treatment for patients who have Legg-Perthes disease, and the Atlanta Scottish Rite-type orthosis is the most commonly used orthosis for this condition, there are few clinical data supporting the effectiveness of this device. On the basis of our results, we do not recommend the use of a weight-bearing abduction brace for the treatment of severely involved hips.

Child↗
PubMed1991

The importance of positive bacterial cultures of specimens obtained during clean orthopaedic operations.

Microbiological cultures of specimens of tissue and of fluids from the wound in forty patients who had had consecutive clean, elective orthopaedic operations (excluding total joint replacements) and had not received antibiotics preoperatively were analyzed. Of the forty patients, twenty-three (58 per cent) had a positive culture on at least one of the media that were used and seventeen (43 per cent) had negative cultures. Of the forty specimens that were obtained from swabbing of the wound, eight (20 per cent) were positive on culture, compared with twenty (50 per cent) that were obtained from biopsy of tissue. Of these twenty-eight positive cultures, thirteen (46 per cent) were on routine blood-agar plates and fifteen (54 per cent), in broth only. Of the thirty-three bacterial organisms that were identified in the twenty-eight positive cultures of the wound, nineteen (58 per cent) were coagulase-negative Staphylococcus; eight (24 per cent), Propionibacterium acnes; two (6 per cent), Peptostreptococcus; and four (12 per cent), miscellaneous organisms. In all of the positive cultures on the blood-agar plates, except in those showing Propionibacterium acnes, there were five colonies or fewer. One patient had a clinical infection with Staphylococcus aureus that developed later, but the initial cultures of the wound had been positive for Staphylococcus epidermidis only. None of the bacteria that grew on culture were Staphylococcus aureus or the less common pathogenic gram-negative bacteria, such as Escherichia coli, Pseudomonas, or Klebsiella.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗
PubMed1990

Reflex sympathetic dystrophy in children.

Reflex sympathetic dystrophy (RSD) is an uncommonly reported entity in children. This paper reports five cases of RSD in children and summarizes 80 cases of pediatric RSD reported in the literature. The diagnosis is based on the clinical findings of pain, dysesthesia, and autonomic instability. Tache cérébrale, not previously described in the diagnosis of RSD, is a helpful sign of vasomotor dysfunction. RSD in childhood frequently affects the lower extremities, in contrast to the adult localization around the shoulders and hands. Noninvasive, nonpharmacologic management is generally successful. A simple outpatient program of massage and mobilization was beneficial in four of the five patients treated in this study.

Adolescent↗
PubMed1989

Effect of denervation on limb growth.

This study used Rana pipiens tadpoles to assess the effect of complete and partial sciatic denervation on tibial bone growth and foot growth. Complete sciatic denervation was performed in R. pipiens at Stages XIV, XVII, and XX and they were killed at Stages XVII, XX, and XXIV. Partial denervation consisted of peroneal or tibial nerve sectioning at Stages XVII and XX with killing at Stages XX and XXIV. Analysis of experimental animals and controls consisted of (a) quantitative axon counts, (b) tibial length, (c) midtibial cross-sectional area, (d) midtibial cortical thickness, (e) midtibial cartilage anlage cross-sectional area, (f) foot silhouette area, and (g) osteocyte number and osteocyte density. Both complete and partial denervation resulted in significant effects on bone and foot growth: (a) decreased bone length, (b) decreased cross-sectional bone area without cortical thinning, (c) increased cartilage anlage cross-sectional area, and (d) decreased foot size. This experiment demonstrated a trophic effect of nerve on bone growth and development and foot growth. The mechanism of this action is unknown but the data suggests a slowed rate of maturation in denervated bones. The possibility exists that defective peripheral nerve-limb tissue interactions may cause human deformities such as idiopathic clubfoot and idiopathic limb length discrepancy.

Animals↗